Localization of the X-linked ocular albinism gene (OA1) between DXS278/DXS237 and DXS143/DXS16 by linkage analysis.
Linkage analysis was performed in six families segregating for X-linked ocular albinism of the Nettleship-Falls type using four polymorphic DNA markers from the distal Xp. Linkage was found between the disease locus (OA1) and the loci DXS237 (theta max = 0.06, Zmax = 2.82), DXS278 (theta max = 0.03, Zmax = 5.27) and DXS16 (theta max = 0.10, Zmax = 2.33). The analysis of multiple informative meioses suggests that OA1 maps between DXS278/DXS237 and DXS143/DXS16. Multipoint linkage analysis slightly favours the order DXS278/DXS237-OA1-DXS16. These data refine the genetic localization of OA1 and may be useful for carrier detection in X-linked ocular albinism by DNA analysis.
Bergen
A A
AA
The Netherlands Ophthalmic Research Institute, Amsterdam.
Samanns
C
C
Van Dorp
D B
DB
Ferguson-Smith
M A
MA
Gal
A
A
Bleeker-Wagemakers
E M
EM
D016117:Albinism, Ocular / Q000235:genetics*; D015139:Blotting, Southern; D015342:DNA Probes; D005260:Female; D008040:Genetic Linkage / Q000235:genetics*; D005819:Genetic Markers / Q000235:genetics; D005838:Genotype; D006801:Humans; D008297:Male; D010375:Pedigree; D014960:X Chromosome
D015342:DNA Probes; D005819:Genetic Markers